ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.83279A>T (p.Asn27760Ile)

gnomAD frequency: 0.00006  dbSNP: rs200714263
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000184894 SCV003821736 uncertain significance not provided 2019-12-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004537557 SCV004114478 uncertain significance TTN-related disorder 2023-08-01 criteria provided, single submitter clinical testing The TTN c.83279A>T variant is predicted to result in the amino acid substitution p.Asn27760Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0063% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-179427580-T-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
GeneDx RCV000184894 SCV000237642 not provided not provided 2013-08-05 no assertion provided clinical testing Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in DCM panel(s).

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